Associated Papers
Clinical manifestations and molecular genetics of seven patients with Niemann-Pick type-C: a case series with a novel variant.
Kara C et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2025
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
Freihuber C et al.
Orphanet Journal of Rare Diseases, 2023
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14
Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.
Seker Yilmaz B et al.
International Journal of Molecular Sciences, 2020
Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member.
Topçu M et al.
Molecular Diagnosis & Therapy, 2017
Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study.
De Castro-Orós I et al.
Journal of Translational Medicine, 2017
Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature.
Sheth J et al.
Bmc Medical Genetics, 2017
Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C.
Hebbar M et al.
American Journal of Medical Genetics. Part A, 2016
Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.
Verot L et al.
Clinical Genetics, 2007
Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations.
Chikh K et al.
Human Mutation, 2005
[Fatal neonatal respiratory distress in Niemann-Pick C2 and prenatal diagnosis with mutations in gene HE1/NPC2].
Morisot C et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2005
Structure and function of the NPC2 protein.
Vanier MT et al.
Biochimica Et Biophysica Acta, 2004
Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.
Millat G et al.
American Journal of Human Genetics, 2001
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